Osteogenesis imperfecta (oim), is a spontaneous mutation in the pro-alpha2 chain of type I collagen. Homozygous mice exhibit osteopenia, progressive skeletal deformities, fractures, cortical thinning and small body size. This strain may be useful for studying collagen matrix biology and as a model for human osteogenesis imperfecta (OI).Read More +
COL1A2 encodes the pro-alpha2 chain of type I collagen. Type I collagen is found in connective tissue, bone, cornea, dermis and tendon and is the most abundant collagen found in the human body. Mutations in this gene are associated with osteogenesis imperfecta (OI). The spontaneous mutation, osteogenesis imperfecta (oim), is a single nucleotide deletion (G) that alters the terminal approximately 50 amino acids of the pro-alpha 2 C-propeptide and prevents association with the pro-alpha1 chains. Mice homozygous for oim exhibit osteopenia, progressive skeletal deformities, fractures, cortical thinning and small body size. Mice are identified at birth by hemorrhages into joint cavities, sides of the body or around the scapulas; breaks in the long bones/tail; and a "drooping wrist" appearance in the forepaws. This strain may be useful for studying collagen matrix biology and as a model for osteogenesis imperfecta.
The mutation to osteogenesis imperfecta (oim) arose spontaneously in 1985 in the F2 generation of a C57BL/6J male bred with a C3H/HeJ-din ovarian transplant host which was itself a B6C3Fe-a/a F1 hybrid. In this F2 generation a pair of mice showing the abnormal leg development were mated and an affected offspring was outcrossed to a B6C3FeF1/J-a/a hybrid. The strain was subsequently maintained by cross-intercross, crossing a homozygote to a B6C3FeF1/J-a/a hybrid to maintain hybrid vigor then intercrossing the heterozygous offspring to produce affected homozygotes for the next cross to the F1 hybrid. In 1991 B6C3FeF1/J-a/a hybrid females were bred with N13 males homozygous for oim to generate embryos for cryopreservation. As of 2017, The Jackson Laboratory maintains this line by breeding heterozygous mice to B6C3FeF1/J a/a (Stock No. 001022).
|Allele Name||osteogenesis imperfecta|
|Gene Symbol and Name||Col1a2, collagen, type I, alpha 2|
|Strain of Origin||(C3H/HeJ x C57BL/6JLe)F2|
|Molecular Note||A deletion of a single G residue at position 3978 (Col1a2:NM_007743.3:c.3978del) is predicted to result in a frameshift mutation and an alteration of the last 48 amino acids in the encoded protein.|
|Gene Symbol and Name||a, nonagouti|
|Strain of Origin||old mutant of the mouse fancy|
|General Note||Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039|
|Molecular Note||Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats (beta4 retroviral sequence). The host integration site is the same as for at-2Gso and Aw-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type.|
These mice may need to wait until 5 weeks of age to be phenotypically classified.
Stock number 001022 - B6C3FeF1/J a/a x het
het x Stock #001022 number - B6C3FeF1/J a/a
When using the osteogenesis imperfecta mouse strain in a publication, please cite the originating article(s) and include JAX stock #001815 in your Materials and Methods section.
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